Growth failure
Gene: PCDHGC4EnsemblGeneIds (GRCh38): ENSG00000242419
EnsemblGeneIds (GRCh37): ENSG00000242419
OMIM: 606305, Gene2Phenotype
PCDHGC4 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Eight variants reported in 19 members of nine unreleted families with a neurodevelopmental syndrome. Severe or moderate intellectual disabilty in eight families and seizures in four families. Four of the variants were LoF, in silico analysis of the remaining missense (n=3) and splice variants were predicted to be pathogenic.
Poor growth was a key feature.
Sources: Expert ReviewCreated: 22 May 2022, 8:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880
- OMIM
- 606305
- Clinvar variants
- Variants in PCDHGC4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pcdhgc4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pcdhgc4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PCDHGC4 was added gene: PCDHGC4 was added to Growth failure. Sources: Expert Review Mode of inheritance for gene: PCDHGC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCDHGC4 were set to 34244665 Phenotypes for gene: PCDHGC4 were set to Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880